Variant report

Variant	rs8041448
Chromosome Location	chr15:44856443-44856444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44849662..44852337-chr15:44856313..44858225,2	K562	blood:
2	chr15:44856012..44857813-chr15:44874355..44876849,2	K562	blood:
3	chr15:44845074..44847920-chr15:44856159..44858171,2	K562	blood:
4	chr15:44855147..44857762-chr15:44952802..44955479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104133	Chromatin interaction
ENSG00000259659	Chromatin interaction
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16964045	0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs2288340	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2291647	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2412884	1.00[ASN][1000 genomes]
rs36093509	1.00[AMR][1000 genomes]
rs3752690	0.88[JPT][hapmap]
rs3784568	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56719500	1.00[AMR][1000 genomes]
rs57119348	1.00[AMR][1000 genomes]
rs57459307	1.00[AMR][1000 genomes]
rs58758000	1.00[AMR][1000 genomes]
rs59261301	1.00[AMR][1000 genomes]
rs7170216	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7172726	0.95[ASN][1000 genomes]
rs7173921	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7175978	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7176018	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7181037	1.00[AMR][1000 genomes]
rs8037681	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44831000-44856800	Weak transcription	Fetal Brain Male	brain
2	chr15:44833800-44857200	Weak transcription	Small Intestine	intestine
3	chr15:44838400-44857200	Weak transcription	Stomach Mucosa	stomach
4	chr15:44840200-44858000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:44840600-44857000	Strong transcription	Hela-S3	cervix
6	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr15:44842400-44856600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:44842400-44857400	Weak transcription	Right Atrium	heart
9	chr15:44842800-44857000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:44843000-44856600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:44843000-44857200	Strong transcription	NH-A	brain
12	chr15:44843200-44857000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:44843200-44857000	Strong transcription	Dnd41	blood
14	chr15:44843200-44857400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:44843200-44857400	Strong transcription	Liver	Liver
16	chr15:44843200-44857400	Strong transcription	Fetal Intestine Large	intestine
17	chr15:44843200-44857600	Strong transcription	Adipose Nuclei	Adipose
18	chr15:44843200-44867800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:44843200-44868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:44843400-44856600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:44843400-44856800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:44843600-44866000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:44843800-44857000	Strong transcription	Primary B cells from cord blood	blood
24	chr15:44843800-44857000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:44843800-44857000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:44843800-44857200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr15:44843800-44857400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr15:44843800-44867600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:44844000-44857200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:44844000-44857200	Strong transcription	Fetal Muscle Leg	muscle
31	chr15:44844000-44866400	Strong transcription	Placenta	Placenta
32	chr15:44844000-44867600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:44844000-44867600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr15:44844000-44868200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:44844000-44870400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:44844200-44861800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr15:44844400-44856800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:44844600-44857400	Strong transcription	Brain Substantia Nigra	brain
39	chr15:44844600-44867400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr15:44844600-44867600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr15:44844800-44857400	Strong transcription	Fetal Lung	lung
42	chr15:44845000-44857600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:44845600-44865800	Strong transcription	Osteobl	bone
44	chr15:44847200-44856800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr15:44847200-44857000	Strong transcription	Fetal Brain Female	brain
46	chr15:44847200-44857400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:44847800-44856800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:44847800-44857000	Strong transcription	Fetal Thymus	thymus
49	chr15:44847800-44857000	Strong transcription	GM12878-XiMat	blood
50	chr15:44848000-44857000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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